Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Comparison Of Echocardiographic Measurements To Invasive Measurements Of Diastolic Function In Infants With Single Ventricle Physiology: A Report From The Pediatric Heart Network Infant Single Ventricle Trial., Suma P. Goudar, Victor Zak, Andrew M. Atz, Karen Altmann, Steven D. Colan, Christine B. Falkensammer, Mark K. Friedberg, Michele Frommelt, Kevin D. Hill, Daphne T. Hsu, Jami C. Levine, Renee Margossian, Christopher R. Mart, Joshua Sticka, Peter Shrader, Girish S. Shirali, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: While echocardiographic parameters are used to quantify ventricular function in infants with single ventricle physiology, there are few data comparing these to invasive measurements. This study correlates echocardiographic measures of diastolic function with ventricular end-diastolic pressure in infants with single ventricle physiology prior to superior cavopulmonary anastomosis.

METHODS: Data from 173 patients enrolled in the Pediatric Heart Network Infant Single Ventricle enalapril trial were analysed. Those with mixed ventricular types (n = 17) and one outlier (end-diastolic pressure = 32 mmHg) were excluded from the analysis, leaving a total sample size of 155 patients. Echocardiographic measurements were correlated to …

A Multifaceted Approach To Improve Quarterly Visit Rates At A Pediatric Cystic Fibrosis Care Center, Paula Capel, Jessica Banks, Micaela Mckenna, Ashley Andrews, Christopher M. Oermann

Posters

Standard quality improvement methodology was used to improve quarterly visit rates among cystic fibrosis patients at Children's Mercy Kansas City Cystic Fibrosis Center.

• A family-centered, team-based approach was adopted
• A change in culture led to sustained improvement

Improved quarterly visit rates should drive improvement in outcomes including pulmonary function and nutritional status.

The Kanga-Croo: Nurse Resident Champions Creating Momentum For Improvement, Brett Butler, Jacob Burden, Carly Creekmore, Blair Griffin, Taylor Godemann, Taylor Hagen, Theresa Koelling, Mary Anne Kucera, Halle Magid, Makenna Miller, Monica Page, Mary Riffel, Madison Stebbins, Sarah Stokes, Skylar Suppes

Posters

Topic Summary:

Kangaroo Care (skin to skin care) is a parent-led, evidence-based intervention which improves outcomes in neonatal patients including: decreased apnea, increased weight gain, increased parent satisfaction and decreased length of stay.

Results:

Nurse resident team interventions to support parent engagement and remove barriers to Kangaroo Care (KC) through iterative PDSA cycles from January 2018 to July 2019 yielded positive results within a subset of ICN patients.

Blue Rubber Bleb Nevus Syndrome, Danielle Kocsis, Anthony Dupuy, Stacey Wice, Aftab Ahmad, Tehmina Yaquibi

Internal Medicine

No abstract provided.

Eugenics In The 21st Century, Jessica Linn Chin

Dissertations, Theses, and Capstone Projects

Eugenics is the science of enhancing the human population through the management of breeding and hereditary traits. This thesis explores the history of eugenics and shows how eugenic practices continue in the 21^st century with advancements in technology and positive eugenic goals that can result in adverse effects on the human body and society. When Sir Francis Galton coined the term eugenics in 1883, he intended to improve British society with the use of positive eugenics. Galton used positive eugenics to encourage people with good mental and physical qualities to produce more children. He avoided negative eugenics, which involved …

Screening And Diagnosing Spinal Muscular Atrophy By Use Of Buccal Swabs: A Validation Study Using Ddpcr, Anna Mackay

Honors Scholar Theses

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder characterized by progressive muscle weakness due to the degeneration of motor neurons. SMA is caused by a homozygous deletion, mutation or rearrangement in the Survival Motor Neuron 1 (SMN1) gene. Survival Motor Neuron 2 (SMN2) is located tandem to SMN1 and is identical to SMN1 except for a single nucleotide substitution in exon 7. SMA diagnosis and carrier status can be determined by droplet digital PCR (ddPCR). This study sought to validate Bio-Rad’s ddPCR SMN1and SMN2 gene determination copy number assay for SMA diagnosis and screening using buccal swabs specimens. Buccal …

Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre

SMU Data Science Review

Identifying which genes are early indicators for preterm births using cell-free ribonucleic acid (cfRNA) from non-invasive blood tests provided by pregnant women can improve prenatal care. Currently, there are no medical tests for early detection of preterm birth risk in routine checkups for pregnant women. Recent studies have shown potential genes that can predict preterm birth. Machine learning techniques are utilized to see if the Area Under the Curve (AUC) can be improved upon when evaluating the prediction accuracy for chosen genes sequences and concentrations. Using cell-free RNA data from non-invasive blood tests in conjunction with machine learning, we improve …

Burden Of Disease In Pediatric Patients With Hypophosphatasia: Results From The Hpp Impact Patient Survey And The Hpp Outcomes Study Telephone Interview., Eric T. Rush, Scott Moseley, Anna Petryk

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, including bone mineralization defects and systemic complications. The burden of disease is poorly characterized, particularly in children. This study aimed to characterize the patient-reported burden of disease among children with HPP using two survey instruments: the HPP Impact Patient Survey (HIPS) and the HPP Outcomes Study Telephone interview (HOST).

METHODS: Between September 2009 and June 2011, pediatric patients (aged younger than 18 years) with HPP were recruited to participate in the study via …

The Impact Of Epigallocatechin-3-Gallate (Egcg) On Ts65dn Down Syndrome Mouse Models, Nicole Santana

The Pegasus Review: UCF Undergraduate Research Journal

Down syndrome (DS) is caused by the trisomy 21 genetic disorder, which produces a unique craniofacial phenotype. The purpose of this research is to better understand how Epigallocatechin-3-gallate (ECGC) influences the development of DS craniofacial phenotypes. Ts65Dn DS mouse models have been genetically modified to have 3 copies of numerous genes found on human chromosome 21, including DYRK1A, which plays a role in bone and brain development. EGCG is a known inhibitor of Dyrk1a activity. For this study, pregnant Ts65Dn mice were treated with 200 mg/kg of ECGC twice daily on days 7 and 8 of pregnancy. It was …

Neverland: A Critical Autoethnography Of Aging With Cystic Fibrosis, Alexandra Ch Nowakowski

The Qualitative Report

In this autoethnography, I analyze stereotypes and misconceptions about people with cystic fibrosis (CF). I examine these illness representations and their social underpinnings through critical analysis of my journey to conclusive diagnosis with CF after first being tested for the disease in early life, and the events that have followed from that turning point. Using experiential data and prior research, I explore and refute harmful misconceptions about life with CF. I challenge the notion that people with CF never grow old. I also contest the idea that people who receive conclusive diagnoses during adulthood only then transition into patient identities. …

Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy …

The Impact Of Cleft Lip/Palate And Clp Surgical Intervention On The Social Integration Of Adolescents In India, Mustafa Zahid

Master's Theses

Cleft Lip/Palate, a congenital orofacial anomaly, carries an incidence rate of approximately 1 in every 1000 births. In addition to the stigma associated with the condition, the varying levels of cleft severity might result in lower life outcomes which could include lower cognitive ability, physical and psychological well-being, social and behavioral outcomes of adolescents. This paper focuses on the social integration element of life outcomes, which is composed of the social inclusion and prosocial behavior of the adolescent. Despite the affordability of restorative surgeries, patients in rural areas of Low and Middle-Income Countries (LMICs) such as India face accessibility and …

Permanent Junctional Reciprocating Tachycardia In Infants And Children, Ranjit I. Kylat Md, Ricardo A. Samson

School of Medicine Faculty Research

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of supraventricular tachycardia (SVT). It generally presents in infants but can be difficult to diagnose. The characteristic EKG findings, response to Adenosine and persistence or frequent recurrences are helpful in making the diagnosis. It is usually difficult to manage with the initial and single medications used in SVT. Many patients are misdiagnosed and not treated effectively and end up having end stage cardiomyopathy and are diagnosed in patients referred for transplant. Hence all patients referred for a cardiac transplant with dilated cardiomyopathy need to be evaluated for this arrhythmia. If appropriate …

The Effects Of Antenatal Betamethasone On Late Preterm Infants, Jennifer Hummel, Abigail Prest, Xinhua Chen

Rowan-Virtua Research Day

Administration of steroids to mothers expected to deliver in the late preterm period has previously been found to decrease neonatal respiratory morbidity. In this retrospective chart review, there were no significant differences between groups in the primary outcome of required respiratory support for the neonate, incidence of periventricular hemorrhage or neonatal death. However, this study found that their rate of hyperbilirubinemia, need for phototherapy, and NICU stays were longer than their counterparts whose mothers did not receive steroids or who only received one dose.These findings may provide support for future protocols directed to improve neonatal morbidity secondary to jaundice.

A Unique Model For Palliative Care In A Level Iv Neonatal Intensive Care Unit, Kelstan L. Ellis Do, Megan Tucker, Jennifer Linebarger

Posters

This poster describes a review of the relationship between the Fetal Health Center and the Palliative Care team as the Palliative Care Team follows the patient family from prenatal through neonatal intensive care.

Improving Nicu Referrals To The Missouri Early Intervention Program (First Steps), Luke Prest, Lauren Fenstermann, Ayman Khmour

Posters

First Steps is the statewide early intervention program in Missouri, but a review of referrals from the Truman neonatal intensive care unit revealed that only 24% of eligible patients were being referred. This poster describes efforts to increase awareness among residents and to refer all eligible patients to First Steps upon discharge.

Who Codes In The Nicu: An Analysis Of Demographics And Factors That Place Neonates At Higher/Lower Risk Of A Serious Code Event And Prognosis Post-Code, Danielle N. Gonzales, Ashley K. Sherman, Jennifer Dremann, Staci Elliott, Amelia Gute, Amber Bellinghausen, Jessica Brunkhorst, Danielle Reed

Posters

This study analyzed resuscitation events in a level IV neonatal intensive care unit from 2012-2017 to determine whether there are identifiable differences between those who have a rapid response event and those with a short or long code and determine factors post-event that may impact survival to discharge.

Fetal Ventricular Measurement In Determination For Intrauterine Closure Of Myelomeningoceles, Paige Lundy, Emanuel Vlastos, Paul A. Grabb

Posters

Prenatal closure of myelomeningoceles for fetuses with ventricular width of greater than 15 mm at the time of intrauterine screening (19-25 weeks) has been discouraged, but little is documented regarding the details of ventricle measurement, modality, and timing. This study concludes that ultrasound and MRI provide different results in regards to fetal ventricle size. If treatment recommendations are going to be offered or withheld based on the 15 mm "rule" the method of fetal imaging must be taken into account.

Embryonic Lethality Of Cranial Neural Crest Deletion Of Cdc73, Lilia Shen

Honors Scholar Theses

Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a disease characterized by parathyroid tumors, renal cysts or tumors, uterine tumors, and ossifying jaw fibromas. The cause of this syndrome is linked to a tumor suppressor gene called Cdc73, which encodes the protein product parafibromin. The loss of proper expression of Cdc73/parafibromin is implicated in the development of the tumors typical of HPT-JT, although the exact mechanisms of tumorigenesis are unclear. In particular, not much is understood about the development of ossifying fibromas (OF) of the jaw in this syndrome. OF is a benign bone neoplasm that can affect the mandible and …

Metabolic Control, Quality Of Life, And Body Image In Patients With Glycogen Storage Disease Type Ia, Alexa Bream

Dissertations and Theses (Open Access)

Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary to an inability to properly break down glycogen and to perform gluconeogenesis. Complex management is then necessary for patients and includes dietary modification, frequent cornstarch usage, and evaluation for additional complications such as hepatic adenomas, hypertriglyceridemia, and kidney disease. Previous studies have found lower scores in quality of life and body image in GSDIa patients; however, the specific factors influencing this …

The Effects Of Two Novel Anti-Inflammatory Compounds On Prepulse Inhibition And Neural Microglia Cell Activation In A Rodent Model Of Schizophrenia, Heath W. Shelton

Electronic Theses and Dissertations

Recent studies have shown elevated neuroinflammation in a large subset of individuals diagnosed with schizophrenia. A pro-inflammatory cytokine, tumor necrosis factor-alpha (TNFα), has been directly linked to this neuroinflammation. This study examined the effects of two TNFα modulators (PD2024 and PD340) produced by our collaborators at P2D Bioscience, Inc., to alleviate auditory sensorimotor gating deficits and reduce microglial cell activation present in the polyinosinic:polycytidylic (Poly I:C) rodent model of schizophrenia. Auditory sensorimotor gating was assessed using prepulse inhibition and microglial activation was examined and quantified using immunohistochemistry and confocal microscopy, respectively. Both PD2024 and PD340 alleviated auditory sensorimotor gating deficits …

Validity Of Neonatal Poc Glucose Testing, Matthew Turnquist, Amy Haskins, Christina Holt

MaineHealth Maine Medical Center

Background:

Glucose monitoring a common invasive intervention in newborn period

•most commonly obtained laboratory value

Appropriate identification of hypoglycemia is critical:

•Severe hypoglycemia can lead to neurologic insult

•Cerebral palsy, developmental delay, seizures, death

Total And Free Plasma Bilirubin And Clinical Outcomes In Severe Hyperbilirubinemia, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, Tina Slusher, Fatima Abdullahi, Hafsat M. Suleiman, Victor C. Pam, Mamu B. Samuel, Christopher S. Yilgwan, Christian Isichei, Idris Y. Mohammed

Posters

Acute bilirubin encephalopathy (ABE) and kernicterus spectrum disorder (KSD) have become relatively uncommon in high income countries but remain a major cause of morbidity and mortality in low- and middle-income countries. To better understand the relationship between free (Bf) and total (TB) bilirubin levels and the development of ABE and KSD we followed infants born in three large tertiary centers in northern and central Nigeria (Jos, Kano and Zaria).

Weighted Pathway Genetic Load Analysis Of Hyperbilirubinemic Infants Indicates A Potential Genetic Component For Susceptibility To Bilirubin Neurotoxicity, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, John Cowden, Monica Villagullen, Laurence Thielemans, Dina Villanueva Garcia, Jesus Aguirre-Hernandez

Posters

Severe kernicterus spectrum disorder (KSD) is described as motor and auditory deficits resulting from brain damage caused by hyperbilirubinemia. The severity of HB does not always predict the severity of injury. The lack of a strong monogenetic link to susceptibility suggests bilirubin-induced brain damage may be due to impaired bilirubin response pathways. This poster describes work to use a modified pathway genetic load (mPGL) score method to perform a targeted genetic analysis of whole exome data from patients with various degrees of neonatal HB, with an ultimate goal of developing a neonatal screen to susceptibiltiy to bilirubin neurotoxicity.

Identification Of Inadvertent Azygous Vein Cannulation Using Transthoracic Echocardiography During Venoarterial Extracorporeal Membrane Oxygenation Initiation., Bethany Runkel, Jason D. Fraser, John Daniel, Karina M. Carlson

Manuscripts, Articles, Book Chapters and Other Papers

It is well known that optimal cannula positioning during initiation of venoarterial (VA) extracorporeal membrane oxygenation (ECMO) is directly related to ECMO circuit function. Malpositioned cannulae can have deleterious effects on clinical outcomes, and inadvertent cannulation of the azygous vein during initiation of ECMO is a rare but potentially devastating complication that has been reported only a few times in the literature. Here we report a case of azygous vein cannulation in a neonate that was not identified on chest radiography but was recognized and corrected expeditiously with the use of transthoracic echocardiography.

The Pharmabiotic For Phenylketonuria: Development Of A Novel Therapeutic, Chloé Elizabeth Lebegue

Senior Theses

Phenylketonuria, now known as phenylalanine hydroxylase (PAH) deficiency, is a genetic disorder of metabolism affecting approximately one in every 15,000 infants born in the United States. Patients have nonfunctional PAH enzyme secondary to one or more genetic mutations. The enzyme deficit results in destructive supraphysiologic blood phenylalanine levels upon consumption of the essential dietary amino acid phenylalanine. Current standards of care mitigate signs and symptoms of the disorder, but do not approach a cure. The methods for creating a prototype pharmabiotic as an innovative treatment strategy for PAH deficiency are described herein.

DNA molecular cloning techniques were utilized to engineer …

Minimizing Unplanned Extubations In The Intensive Care Nursery, Lindsay Barrosse, Blaire Collins, Cassidy Horton, Jodie Seitzer, Brittney Hunter, Jenny Mckee

Nurse Presentations

Describes a project to ensure compliance with a standardized process for endotracheal tube management in the intensive care nursery in order to reduce the number of unplanned extubations and their consequent adverse effects.

Aortoduodenal Fistula Forms From Primary Aortic Stump Graft In A Two-Time Multi-Visceral Transplant Patient With Presentation Of Gastrointestinal Bleed And Bowel Perforation: A Case Report, Brielle Corrente

Graduate Student Research Symposium

Usually not diagnosed until open laparotomy, aortoduodenalfistulas (ADF) are one of the rarest complications of intestinal transplant surgery. With an incidence rate of only 0.04% at autopsy and only 250 documented cases since the early 1800’s, aortoduodenal fistulas are the most deadly complications of intestinal transplantation with a mortality rate of 100% without surgical intervention. A 39 year old, two-time multi-visceral transplant African American female patient suffered from a primary aortoduodenal fistula formation in a primary modified multi-visceral transplant aortic stump graft site. With emergency open laparotomy repair, revascularization of the secondary multi-visceral transplant was performed, saving the life of …

Pharmacological Management Of Cystic Fibrosis - Exploring The Therapeutic Advancements In Cystic Fibrosis, Jessica Justiz

All Publications

No abstract provided.

I Can't Breathe - Cystic Fibrosis, Mayret Gonzalez

All Publications

No abstract provided.